Aortopathy_Connective Tissue Disorders
Gene: NOTCH1EnsemblGeneIds (GRCh38): ENSG00000148400
EnsemblGeneIds (GRCh37): ENSG00000148400
OMIM: 190198, Gene2Phenotype
NOTCH1 is in 17 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
NOTCH1 variants are associated with cardiac abnormalities including aortic valve stenosis, a bicuspid aortic valve, coarctation of the aorta, hypoplastic left heart syndrome, and thoracic aortic aneurysms in nonsyndromic individuals (2 families in PMID:16025100; 2 individuals in PMID:16729972; 14 families in PMID:26820064). Penetrance is incomplete and not all individuals display all phenotypes (e.g. only 6/63 individuals from PMID:26820064 had thoracic aortic aneurysms).
Monoallelic NOTCH1 variants are also responsible for Adams-Oliver syndrome, which can have associated cardiac abnormalities (PMID: 25963545).
Sources: LiteratureCreated: 1 Jul 2020, 3:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Aortic valve disease MIM# 109730
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Aortic valve disease MIM# 109730
- Thoracic aortic aneurysm
- OMIM
- 190198
- Clinvar variants
- Variants in NOTCH1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Leukodystrophy - adult onset
- Clefting disorders
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Hand and foot malformations
- Hereditary Spastic Paraplegia - adult onset
- Skeletal dysplasia
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Aortopathy_Connective Tissue Disorders
- Hereditary Spastic Paraplegia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: notch1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NOTCH1 were changed from Aortic valve disease MIM# 109730 to Aortic valve disease MIM# 109730; Thoracic aortic aneurysm
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: notch1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: NOTCH1 was added gene: NOTCH1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH1 were set to 16729972; 26820064; 16025100; 25963545 Phenotypes for gene: NOTCH1 were set to Aortic valve disease MIM# 109730 Review for gene: NOTCH1 was set to GREEN